Mutations in the CRB1 gene cause Leber congenital amaurosis
about
sameAs
Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosaRetinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosisIdentification of novel murine- and human-specific RPGRIP1 splice variants with distinct expression profiles and subcellular localizationThe dynamic architecture of photoreceptor ribbon synapses: cytoskeletal, extracellular matrix, and intramembrane proteinsDrosophila Crumbs is a positional cue in photoreceptor adherens junctions and rhabdomeresA novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosisGenetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutionsCRB1 mutation spectrum in inherited retinal dystrophiesGenetic and clinical heterogeneity in LCA patients. The end of uniformityCentrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosisUnraveling the genetic complexity of Drosophila stardust during photoreceptor morphogenesis and prevention of light-induced degeneration.The severity of retinal pathology in homozygous Crb1rd8/rd8 mice is dependent on additional genetic factors.Tissue-specific requirements for specific domains in the FERM protein Moe/Epb4.1l5 during early zebrafish development.Multiple domains in the Crumbs Homolog 2a (Crb2a) protein are required for regulating rod photoreceptor size.Photoreceptor oxidative stress in hyperoxia-induced proliferative retinopathy accelerates rd8 degenerationMutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.The Par-PrkC polarity complex is required for cilia growth in zebrafish photoreceptorsWhole exome sequencing identifies CRB1 defect in an unusual maculopathy phenotypeThe role of crumbs genes in the vertebrate cornea.Dominant Leber congenital amaurosis, cone-rod degeneration, and retinitis pigmentosa caused by mutant versions of the transcription factor CRX.The complexities of ocular genetics.Review and update on the molecular basis of Leber congenital amaurosisToward a better understanding of human eye disease insights from the zebrafish, Danio rerio.Human CRB1-associated retinal degeneration: comparison with the rd8 Crb1-mutant mouse modelProgression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus.An unusual retinal vascular morphology in connection with a novel AIPL1 mutation in Leber's congenital amaurosis.CRB1 mutations in inherited retinal dystrophiesGenetic ablation of Pals1 in retinal progenitor cells models the retinal pathology of Leber congenital amaurosis.Identification of recurrent and novel mutations in TULP1 in Pakistani families with early-onset retinitis pigmentosa.Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation.The retinal phenotype of Grk1-/- is compromised by a Crb1 rd8 mutation.The ciliopathies: a transitional model into systems biology of human genetic disease.Molecular analysis of ABCA4 and CRB1 genes in a Spanish family segregating both Stargardt disease and autosomal recessive retinitis pigmentosa.Towards understanding CRUMBS function in retinal dystrophies.Distinct roles of Bazooka and Stardust in the specification of Drosophila photoreceptor membrane architecture.A novel homozygous R764H mutation in crumbs homolog 1 causes autosomal recessive retinitis pigmentosa.High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish populationEarly noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis.Molecular genetics of infantile-onset retinal dystrophies.Leber congenital amaurosis: disease, genetics and therapy.
P2860
Q24310728-6D5EEAC2-E1DD-445F-BD93-81E104E56AACQ24533664-71CECFF2-DF6D-486C-A032-A2A0D560249DQ24673320-5998C3E7-7885-435B-AAAD-7F8907A25366Q26865168-3D915722-5BE1-41E7-8B01-368DDE7E618FQ28202043-23AD76B3-23DA-487F-9E11-99FC7D7995B3Q28207498-34AC2777-29EA-4F54-AAB4-87EF748D3DE8Q28237552-CFD3346E-94C5-4B1A-B3BD-1D20DBAC0250Q28285691-179D91B8-DAF7-4EC5-9FF2-E6475B13E783Q28303876-3787AEE9-E2EB-4C0A-98C1-FB7D91F9DDD8Q28305398-F3A2F4F4-4615-4265-B74E-D05E94F8DADEQ30157930-ED8A13E0-B6FC-4F5C-A9B9-12E6A27B90CCQ30607171-1608E74F-537C-4990-994C-85DB0C9A21DAQ33314432-04B41F0B-EEEE-48BC-9271-4D7021747EACQ33645024-783491AC-3342-48C3-9487-A685251D8D1BQ33865904-FB81BAE3-9354-4646-9215-BD063FA5E370Q34061577-2C2357A9-2548-4648-8645-377BF9FB470EQ34075239-1C82B777-C7FC-4E70-BC15-D1B0A4CE18A4Q34090415-292010EF-6A95-44EC-AD35-DF705F87ADFFQ34135503-2EE0FB06-7A38-4C2F-BFC8-9DC7EE2964E7Q34465814-070FC52D-59E1-467E-912C-E2EDA08587FEQ34592303-236931A5-23D0-4C25-9C69-D29A56BB20EEQ35050757-66A7DDEA-88F2-4223-B33F-B909743240F9Q35176354-1F0D61CB-8C71-4140-8EB7-74BD7386DDE1Q35221208-94E9E354-BCEB-4955-9023-66EBB8601E91Q35590868-DB38B171-A97F-4248-913A-1CD441DA0A64Q35591269-926DA22B-8623-435C-AF31-9F4142D3E025Q35800472-DFFC8D78-FFFF-4A8E-A9B7-6A216028BD53Q35997586-0DBA2242-6ACC-4C8E-8732-B72A25784715Q36001124-A891FE5A-4706-44C7-B6CE-D24B9A46AB7FQ36049811-CB01ED82-2A04-40B3-B0A8-8CA1D21BD220Q36328538-48AB68A3-9CEF-4D46-B794-65735FC1A001Q36433131-64F719AC-5FE7-4BE1-923C-AF704D0231B9Q36482104-2BCE55AF-72BD-40C6-91EF-6F81497A1E5AQ36599306-64701279-2002-4B4F-A70E-FA98BAB88B89Q36689639-440EBB46-AE8E-49FC-A95D-201ED16B384AQ36765794-E46D3595-97C3-4D0A-91E1-CC66DECBD608Q36799351-EB66F612-6EF2-471B-9BFA-D8FFAB206BB1Q36803713-0F2CF35F-8173-4229-A662-8FF09E49E394Q36959926-7A5C8244-A11A-47BD-9D81-0B5E03B88844Q37063535-23941BD6-67D4-4E25-8FAE-A2B150CA06ED
P2860
Mutations in the CRB1 gene cause Leber congenital amaurosis
description
2001 nî lūn-bûn
@nan
2001 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի մարտին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Mutations in the CRB1 gene cause Leber congenital amaurosis
@ast
Mutations in the CRB1 gene cause Leber congenital amaurosis
@en
Mutations in the CRB1 gene cause Leber congenital amaurosis
@nl
type
label
Mutations in the CRB1 gene cause Leber congenital amaurosis
@ast
Mutations in the CRB1 gene cause Leber congenital amaurosis
@en
Mutations in the CRB1 gene cause Leber congenital amaurosis
@nl
prefLabel
Mutations in the CRB1 gene cause Leber congenital amaurosis
@ast
Mutations in the CRB1 gene cause Leber congenital amaurosis
@en
Mutations in the CRB1 gene cause Leber congenital amaurosis
@nl
P2093
P1433
P1476
Mutations in the CRB1 gene cause Leber congenital amaurosis
@en
P2093
A B Fulton
A J Lotery
G A Fishman
J R Rosenow
P Namperumalsamy
R G Weleber
P304
P356
10.1001/ARCHOPHT.119.3.415
P407
P577
2001-03-01T00:00:00Z